Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

Gene Information

Gene Symbol

GRM1

Aliases

GPRC1A, MGLU1, MGLUR1, PPP1R85, SCA44, SCAR13

Entrez Gene ID

2911

Gene Name

Glutamate metabotropic receptor 1

Chromosomal Location

6q24.3

HGNC ID

4593

Summary

This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]

RefSeq DNA

NG_012839.2

RefSeq mRNA

NM_001278064.2, NM_001278065.2, NM_001278066.1, NM_001278067.1

e!Ensembl

Gene	ENSG00000152822
Transcript	ENST00000507005, ENST00000502405, ENST00000492807, ENST00000355289, ENST00000282753, ENST00000507907, ENST00000361719
Protein	, ENSP00000424095, ENSP00000347437, ENSP00000282753, ENSP00000425599, ENSP00000354896

Gene Ontology (GO)

Show/Hide all(19 )

GO ID	Ontology	Function	Evidence	Reference
GO:0007186	Biological process	G protein-coupled receptor signaling pathway	IDA	24603153
GO:0007186	Biological process	G protein-coupled receptor signaling pathway	IMP	28886343
GO:0007216	Biological process	G protein-coupled glutamate receptor signaling pathway	IBA	21873635
GO:0007216	Biological process	G protein-coupled glutamate receptor signaling pathway	IMP	24603153
GO:0007268	Biological process	Chemical synaptic transmission	TAS	9076744
GO:0051482	Biological process	Positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway	IMP	24603153
GO:0051966	Biological process	Regulation of synaptic transmission, glutamatergic	IBA	21873635
GO:0005887	Cellular component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Cellular component	Integral component of plasma membrane	IMP	24603153
GO:0038037	Cellular component	G protein-coupled receptor dimeric complex	IDA	24603153
GO:0038038	Cellular component	G protein-coupled receptor homodimeric complex	IPI	10945991
GO:0098839	Cellular component	Postsynaptic density membrane	IBA	21873635
GO:0004930	Molecular function	G protein-coupled receptor activity	TAS	7476890
GO:0005515	Molecular function	Protein binding	IPI	19084525
GO:0008066	Molecular function	Glutamate receptor activity	IBA	21873635
GO:0008066	Molecular function	Glutamate receptor activity	IDA	10945991, 24603153
GO:0008066	Molecular function	Glutamate receptor activity	TAS	7476890
GO:0099530	Molecular function	G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential	IBA	21873635
GO:0099583	Molecular function	Neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IBA	21873635

Protein Information

Protein Name

Metabotropic glutamate receptor 1, glutamate receptor, metabotropic 1, protein phosphatase 1, regulatory subunit 85

Function

G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phosphatidylinositol-calcium second messenger system. May participate in the central action of glutamate in the CNS, such as long-term potentiation in the hippocampus and long-term depression in the cerebellum (PubMed:24603153, PubMed:28886343, PubMed:7476890). May function in the light response in the retina (By similarity).

Refseq Proteins

NP_001264993.1, NP_001264994.1, NP_001264995.1, NP_001264996.1

UniProt

Q13255

PDB

3KS9, 4OR2